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C12orf57 chromosome 12 open reading frame 57 [ Homo sapiens (human) ]

Gene ID: 113246, updated on 20-Dec-2019

Summary

Official Symbol
C12orf57provided by HGNC
Official Full Name
chromosome 12 open reading frame 57provided by HGNC
Primary source
HGNC:HGNC:29521
See related
Ensembl:ENSG00000111678 MIM:615140
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C10; GRCC10
Summary
This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Expression
Ubiquitous expression in ovary (RPKM 98.5), prostate (RPKM 39.0) and 25 other tissues See more
Orthologs

Genomic context

See C12orf57 in Genome Data Viewer
Location:
12p13.31
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6943438..6946003)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7052146..7055165)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene enolase 2 Neighboring gene atrophin 1 Neighboring gene atrophin 1 repeat instability region Neighboring gene RNA, U7 small nuclear 1 Neighboring gene protein tyrosine phosphatase non-receptor type 6 Neighboring gene nonconserved acetylation island sequence 91 enhancer Neighboring gene uncharacterized LOC105369634

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ATN1

Homology

Clone Names

  • FLJ17308, FLJ23836

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
camera-type eye morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
corpus callosum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
psychomotor behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
third ventricle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein C10
Names
gene rich cluster C10
likely ortholog of mouse gene rich cluster, C10

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034262.1 RefSeqGene

    Range
    5206..7186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301834.1NP_001288763.1  protein C10 isoform 1

    See identical proteins and their annotated locations for NP_001288763.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and encodes the same isoform (1), compared to variant 1.
    Source sequence(s)
    BP318750, CB161655
    Consensus CDS
    CCDS8571.1
    UniProtKB/Swiss-Prot
    Q99622
    Related
    ENSP00000440602.1, ENST00000545581.5
    Conserved Domains (1) summary
    pfam14974
    Location:11113
    P_C10; Protein C10
  2. NM_001301836.1NP_001288765.1  protein C10 isoform 2

    See identical proteins and their annotated locations for NP_001288765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, which results in an alternate AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    BP318750, DB494917
    Conserved Domains (1) summary
    pfam14974
    Location:6100
    DUF4511; Domain of unknown function (DUF4511)
  3. NM_001301837.1NP_001288766.1  protein C10 isoform 3

    See identical proteins and their annotated locations for NP_001288766.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    BM687523, BM781587, BP318750
    Consensus CDS
    CCDS76515.1
    UniProtKB/TrEMBL
    F5GXW5
    Related
    ENSP00000440937.1, ENST00000537087.5
    Conserved Domains (1) summary
    pfam14974
    Location:1184
    P_C10; Protein C10
  4. NM_001301838.1NP_001288767.1  protein C10 isoform 4

    See identical proteins and their annotated locations for NP_001288767.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BE888740, BM781587, BP318750
    Consensus CDS
    CCDS76516.1
    UniProtKB/TrEMBL
    U3KQ85
    Related
    ENSP00000475635.1, ENST00000540506.2
    Conserved Domains (1) summary
    pfam14974
    Location:178
    P_C10; Protein C10
  5. NM_138425.4NP_612434.1  protein C10 isoform 1

    See identical proteins and their annotated locations for NP_612434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is a predominant transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    BC009925, BM781587
    Consensus CDS
    CCDS8571.1
    UniProtKB/Swiss-Prot
    Q99622
    Related
    ENSP00000229281.5, ENST00000229281.6
    Conserved Domains (1) summary
    pfam14974
    Location:11113
    P_C10; Protein C10

RNA

  1. NR_126035.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AV751928, BM781587, BP318750

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6943438..6946003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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